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Congenital cataract with epimetaphyseal dysplasia and facial anomalies.

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Epimetaphyseal Dysplasia with Cataract.

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One reported case. Mode of inheritance unknown.

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Peculiar, “old-looking,” face with small mouth opening, small jaw with hypoplastic mandibular rami, small and irregular teeth, narrow, sharp nose, and cataracts in both eyes. The chest was small with protruding sternum and scapulae. Lumbar lordosis was present, but no kyphoscoliosis. The extremities were relatively long and thin, with large hands and feet and muscle tone was decreased. Skeletal radiographs showed marked, generalized epiphyseal and metaphyseal ossification disturbances. Mental and developmental delay were present. The electrocardiogram showed signs of right ventricular hypertrophy. All laboratory investigations were normal except for elevated gonadotropins and sustained elevation of blood glucose levels after glucose tolerance tests.

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The facial abnormalities could make airway management difficult. Micrognathia and a small mouth opening may interfere with laryngoscopy. The cause of the right ventricular hypertrophy is unknown. Congenital heart defects and pulmonary hypertension resulting from an abnormally shaped chest are two possibilities. The exact cause needs to be determined prior to anesthesia and surgery. Significant lumbar lordosis and skeletal abnormalities make proper positioning more difficult, and special attention must be paid to careful padding of susceptible pressure points. Patients with glucose intolerance may develop overt diabetes mellitus perioperatively and require insulin therapy to maintain normal blood glucose levels.

Kozlowski K, Rafinski T, Kucharska K: Metaphyseal and epiphyseal dysplasia with unusual facies and cataract. Am J Dis Child 125:553, 1973.  [PubMed: 4699894]

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